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Familial infantile myoclonic epilepsy
Did you mean Familial infantile mayoclinic epilepsy?
- ... identified in people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations ...
- ... JL. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet ...
- ... mitochondrial gene and occurs in people with no family history of MERRF. Fukuhara disease MERRF MERRF syndrome Myoclonic epilepsy associated with ragged-red fibers Myoencephalopathy ragged-red ...
- ... diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with ...
- ... with no history of the disorder in their family. Early infantile epileptic encephalopathy 26 EIEE26 Epileptic encephalopathy, early infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 ...
- ... begin in infancy.The seizures in SCN8A-related epilepsy with encephalopathy ... (myoclonic seizures), or loss of consciousness with muscle rigidity ...
- ... with no history of the disorder in their family. ... with epilepsy STXBP1 epileptic encephalopathy STXBP1-related developmental and epileptic ...
- ... with Lennox-Gastaut syndrome have a history of epilepsy beginning in infancy (infantile spasms) or a related condition called West syndrome ... percent of people with this condition have a family history of some type of epilepsy, indicating that inherited genetic factors may play a ...
- ... develop a variety of seizure types, including persisting infantile spasms, short periods of loss of consciousness (absence seizures); sudden episodes of weak muscle tone (drop attacks); rapid, uncontrolled muscle jerks (myoclonic seizures); and episodes of muscle rigidity, convulsions, and ...